Submissions for variant NM_000092.5(COL4A4):c.3634A>G (p.Arg1212Gly)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003066429	SCV003445334	benign	not provided	2024-02-22	criteria provided, single submitter	clinical testing
GeneDx	RCV003066429	SCV005442982	uncertain significance	not provided	2024-07-05	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the Y position is not a common mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences	RCV004738658	SCV005355628	uncertain significance	COL4A4-related disorder	2024-06-04	no assertion criteria provided	clinical testing	The COL4A4 c.3634A>G variant is predicted to result in the amino acid substitution p.Arg1212Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.050% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.